Simultaneous Translocation of Both TCR Loci (14q11) with Rare Partner Loci (Xq22 and 12p13) in a Case of T-lymphoblastic Leukemia.
10.3343/alm.2012.32.3.220
- Author:
Dong Hee KANG
1
;
Se Hyung KIM
;
Jeong Woo JUN
;
Yong Wha LEE
;
Hee Bong SHIN
;
Jee Young AHN
;
Dae Sik HONG
;
You Kyoung LEE
;
Byung Ryul JEON
Author Information
1. Department of Laboratory Medicine and Genetics, Soonchunhyang University College of Medicine, Bucheon, Korea. unifi@schmc.ac.kr
- Publication Type:Case Reports
- Keywords:
T-lymphoblastic leukemia;
Simultaneous translocation of TCR loci;
IRS4 gene
- MeSH:
Adult;
Chromosomes, Human, Pair 12;
Chromosomes, Human, Pair 14;
Chromosomes, Human, X;
Genetic Loci;
Humans;
Insulin Receptor Substrate Proteins/genetics;
Karyotyping;
Male;
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/*genetics/pathology;
Receptors, Antigen, T-Cell/*genetics;
*Translocation, Genetic
- From:Annals of Laboratory Medicine
2012;32(3):220-224
- CountryRepublic of Korea
- Language:English
-
Abstract:
The most common recurrent cytogenetic abnormalities in T-lymphoblastic leukemia (T-acute lymphoblastic leukemia [T-ALL]) involve T-cell receptor (TCR) loci and a variety of partner genes, including HOX11, HOX11L2, MYC, and TAL1. In this report, we present a rare case involving simultaneous translocation of the TCR alpha/delta loci with different partner loci (Xq22 and 12p13); this resulted in a poor prognosis. Chromosomal analysis showed 46,Y,t(X;14)(q22;q11.2),t(12;14)(p13;q11.2) and FISH analysis by using a T-cell receptor alpha delta DNA probe, Split Signal (DakoCytomation, Denmark), showed translocations at the same TCR alpha/delta locus on both chromosomes. FISH with 2 bacterial artificial chromosome clones showed break apart signal, which suggests involvement of the IRS4 gene. To our knowledge, this is the first report of T-ALL in which both TCR alpha/delta loci were translocated with different partner loci, and 1 of the partner loci, Xq22, was a rare translocation partner locus that included IRS4 gene.
